Variant report

Variant	rs72799239
Chromosome Location	chr2:54081923-54081924
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54076202..54078356-chr2:54080419..54081939,2	K562	blood:
2	chr2:54080524..54082859-chr2:54093710..54096577,2	K562	blood:

Variant related genes	Relation type
ENSG00000265452	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12162342	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12162343	0.85[ASN][1000 genomes]
rs12614854	0.88[ASN][1000 genomes]
rs12618276	0.89[EUR][1000 genomes]
rs12618587	0.80[EUR][1000 genomes]
rs12620190	0.80[EUR][1000 genomes]
rs12620208	0.80[EUR][1000 genomes]
rs12620383	0.87[ASN][1000 genomes]
rs12621783	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12623273	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12623380	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1547980	0.88[ASN][1000 genomes]
rs17045292	0.87[EUR][1000 genomes]
rs17045337	0.92[ASN][1000 genomes]
rs17045370	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17045386	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17045435	0.80[EUR][1000 genomes]
rs2068017	0.84[ASN][1000 genomes]
rs2287345	0.80[EUR][1000 genomes]
rs2293361	0.87[ASN][1000 genomes]
rs28396307	0.90[ASN][1000 genomes]
rs3213775	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3731972	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3770389	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821078	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850347	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6713523	0.88[ASN][1000 genomes]
rs6720298	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72799229	0.80[EUR][1000 genomes]
rs72799234	0.80[EUR][1000 genomes]
rs72799236	0.85[EUR][1000 genomes]
rs72799248	0.87[ASN][1000 genomes]
rs72799250	0.87[ASN][1000 genomes]
rs72799257	0.87[ASN][1000 genomes]
rs72799259	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72799262	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72799268	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7580916	0.92[ASN][1000 genomes]
rs7600276	0.87[EUR][1000 genomes]
rs805371	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54025800-54085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54074800-54096600	Weak transcription	Hela-S3	cervix
3	chr2:54075000-54084000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:54076400-54082600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:54077000-54085800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54077400-54082200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:54078600-54086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:54078600-54092200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:54078800-54092400	Weak transcription	K562	blood
10	chr2:54079000-54091800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:54079200-54086800	Weak transcription	Colonic Mucosa	Colon
12	chr2:54079400-54086200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:54079600-54086400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:54079600-54090600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:54079800-54083400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:54080000-54082000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:54080000-54082000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:54080000-54082000	Strong transcription	NH-A	brain
19	chr2:54080000-54082000	Strong transcription	Osteobl	bone
20	chr2:54080000-54083600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:54080000-54083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:54080000-54083800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:54080000-54083800	Strong transcription	Dnd41	blood
24	chr2:54080200-54082000	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr2:54080200-54082000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:54080200-54082000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:54080200-54082000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:54080200-54082000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:54080200-54082000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:54080200-54082000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:54080200-54082000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr2:54080200-54082000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:54080200-54082000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr2:54080200-54082000	Strong transcription	Brain Germinal Matrix	brain
35	chr2:54080200-54082000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:54080200-54082000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:54080200-54082000	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:54080200-54082000	Strong transcription	Placenta	Placenta
39	chr2:54080200-54082000	Strong transcription	Fetal Stomach	stomach
40	chr2:54080200-54082000	Strong transcription	Lung	lung
41	chr2:54080200-54082200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:54080200-54082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:54080200-54082200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr2:54080200-54082200	Strong transcription	Left Ventricle	heart
45	chr2:54080200-54082200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:54080200-54082200	Strong transcription	HMEC	breast
47	chr2:54080200-54082200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:54080200-54082400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:54080200-54082600	Strong transcription	NHDF-Ad	bronchial
50	chr2:54080200-54082800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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